Guideline for the

DIAGNOSIS OF FETAL ALCOHOL

SYNDROME (FAS)
This guideline was developed by a working group based on best available evidence and from a province-wide
survey of physicians. The development of this guideline was funded as part of the Alberta FAS Initiative and
in cooperation with the Prairie Province FAS Initiative.
For the purpose of this guideline, the term FAS (FAE, ARBD) is used to describe the
full continuum of abnormalities attributed to prenatal exposure to alcohol (see
preface).
GOALS
This guideline is intended to:
• assist health care professionals to recognize the disorders associated with fetal
alcohol exposure.
• promote early (infancy and preschool) and accurate diagnosis.
• prevent secondary disabilities1 through early diagnosis.
• prevent future FAS children in affected families by offering interventions to
families which will enable them to abstain from alcohol use when planning or
during pregnancy.
Secondary disabilities:1
• mental health problems
• disruptive school experience
• trouble with the law
• inappropriate sexual behaviour
• drug/alcohol problems
Protective factors:
• early diagnosis before age 6
• stable and understanding caregiver in a non-abusive environment.
• access to resources for person’s with disabilities.
Recommendations
• The standard for diagnosis of FAS includes the following clinical indicators
(Tables 1 and 2):
• a history of maternal alcohol consumption during pregnancy;
• prenatal and/or postnatal growth retardation
• neurodevelopmental and behavioral characteristics
• characteristic facial features (see diagram in background section)
• Primary care providers should refer any child, adolescent or adult suspected to
have FAS to an appropriate specialist such as: a pediatrician, psychiatrist,
psychologist, for further assessment.
• Once a diagnosis has been made:
• specific advice and contraceptive counselling can prevent further births
of alcohol affected children.
• aggressive intervention measures with the help of a multidisciplinary
team*can improve the outcome for the individual; and
 • provide information and support to family/caregivers.
* A multi-disciplinary team for care and management could include, at minimum, two or
three professionals, depending on need and availability within the area; and could be
comprised of the following professionals: physicians, nurses, psychologists,speech
pathologists, occupational therapists, educators, and social workers.2 (Refer to Figure 2 on
back cover)
Background on Diagnosis
History of Maternal Drinking
Establishing the history of alcohol consumption is one of the most difficult issues in
diagnosing FAS. The pregnant woman who consumes alcohol is not always easily
identified. Patients usually are not forthright about their drinking habits nor are they
necessarily able to recall the precise quantities and timing of their drinks. However, in the
absence of a specific biomarker to detect alcohol exposure, the history remains pivotal in
the diagnosis.
The challenge for the physician is to identify women who are drinking alcohol during
pregnancy. Problem drinkers cannot be identified by appearance or by socioeconomic
characteristics. A systematic drinking history is essential and should be obtained from
all patients during the initial history and in subsequent prenatal care.
Taking a history of maternal drinking can be helped by specific screening tools, included
in the Prevention of FAS Recommendations.
Physical and Neurological Features and Characteristics
In the most severely affected children, FAS can be diagnosed at birth, however, the
characteristic physical features are most pronounced between eight months and eight
years of age.3 Facial abnormalities observed in affected children are the key cluster of
physical features of FAS.4 As the child approaches adolescence, the typical facial features
become less pronounced. In some adults, facial characteristics have become so
normalized that early childhood photographs must be used to confirm diagnosis.5 Some
authors suggest that FAS may not be recognized until postnatal growth retardation and
developmental delay become apparent.6 Abnormalities in neurodevelopment and behavior
are usually evident. Alcohol related birth defects (cardiac, skeletal, renal, ocular, auditory)
occasionally occur as well (Table 2).
No single feature alone can be used to diagnose FAS
Growth failure
Alcohol exposure in-utero can cause growth failure either apparent at birth or postnatally.
Facial features
No single facial feature is diagnostic of FAS, but the constellation of short palpebral
fissure, smooth philtrum and thin vermilion upper lip are characteristic features.

Neurodevelopmental and behavioral characteristics

FAS results in abnormalities of cognition, language, and behavior. The expression of
these abnormalities changes from birth to adulthood.
In infancy and early childhood (0-5 years) they include delayed developmental
milestones, poor sleep/wake cycle, attentional deficits, impulsivity, and difficulty
adapting to change.
From ages 6 to 11, the following may also appear: significant learning difficulties,
cognitive delay, an inability to appreciate cause and effect, and poor understanding of
social expectations.
In adolescence and adulthood, these difficulties lead to problems with independent living,
competitive employment, social integration, and involvement with the legal system.
Concomitant secondary disabilities, including mental health disorders, problems of
substance abuse, and behavior disorder are most obvious during adolescence and
adulthood.
No single diagnostic test is available to confirm FAS. Appropriate investigations need
to be undertaken as necessary.
Differential Diagnosis
Other medical, psychosocial, and psychiatric conditions/disorders may present similarly
to FAS. Usually they can be differentiated by an adequate history and investigation.
However, co-morbidities with FAS is a common occurrence.
In an individual presenting with a behaviour disorder or Attention Deficit Disorder, it is
important to consider the maternal alcohol use history and a diagnosis.
The diagnostic criteria outlined in Tables 1 and 2 covers the full spectrum of the
continuum, recognizing that it is sometimes impossible to confirm maternal drinking.
Rather than excluding these cases, it is imperative that the diagnostic criteria enable
professionals to make a diagnosis identifying specific areas of difficulty.
In Conclusion
The diagnosis of FAS relies on a composite of specific physical, psychological and
behavioral tests. Specific programs or services for the individual and the caregiver are
required for accurate diagnosis and appropriate long-term management.
REFERRAL SOURCES
Contact your Regional Health Authority, AADAC or the College of Physicians and
Surgeons of Alberta for a list of current resources.
References
1. Streissguth A. FAS: A guide for families and communities.
2. Clarren S. FAS: a diagnosis for two. Finding Common Ground: Working
Together for the Future, November 1998; Vancouver, British Columbia.
3. Bratton R. Fetal alcohol syndrome: how you can help prevent it. Post Graduate
Medical Education, Nov 1995; 98(5): 197-200.
4. Smith D. The fetal alcohol syndrome. Hospital Practice, October 1979: 121-128.
5. Streissguth A, Aase J, Clarren S. Fetal alcohol syndrome in adolescents and
adults. JAMA, 1991; 265(15): 1961-1967.
6. Rosett H, Weiner L, Edelin K. Strategies for prevention of fetal alcohol effects.
Journal of the American College of Obstetrics and Gynecology, Jan 1981; 57(1):
1-7.
THE ALBERTA CLINICAL PRACTICE GUIDELINES
PROGRAM
The Alberta Clinical Practice Guidelines Program promotes appropriate, effective and
quality medical care in Alberta by supporting the use of clinical practice guidelines. The
program is administered by the Alberta Medical Association under the direction of a
multi-stakeholder steering committee.
TO PROVIDE FEEDBACK
The Working Group for FAS is a multidisciplinary team composed of family physicians,
obstetricians, pediatricians, geneticists, Community Medicine specialists, midwives,
representatives from AADAC, Alberta Family and Social Services, Health Canada, the Alberta
CPG Program, the Reproductive Care Committee, the NECHI Institute, and the public.
The Working Group encourages your feedback. If you need further information or if you have
difficulty applying this guideline, please contact:
The Alberta Clinical Practice Guidelines Program
12230 - 106 Avenue NW
EDMONTON, AB T5N 3Z1
(780) 482-2626
or toll free 1-800-272-9680
Fax:(780) 482-5445
E-mail: ama_cpg@amda.ab.ca
Preface: Preface to the Prevention & Diagnosis of Fetal Alcohol Syndrome (FAS)
Recommendations: Prevention of Fetal Alcohol Syndrome (FAS)
The above recommendations are systematically developed statements to assist practitioner and patient
decisions about appropriate health care for specific clinical circumstances. They should be used as an adjunct
to sound clinical decision making.
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